Multiple pilomatrixomata and myotonic dystrophy: a familial association

doi:10.1054/bjps.1998.3036

British Journal of Plastic Surgery

Volume 52, Issue 2, March 1999, Pages 143-145

https://doi.org/10.1054/bjps.1998.3036 Get rights and content

Abstract

The association of pilomatrixoma and myotonic dystrophy has been described in the past in 13 publications in the English literature. The association seems to involve the development of pilomatrixomata before signs of myotonic dystrophy. Myotonic dystrophy is the commonest adult dystrophy and is an autosomal-dominant disease with a variable phenotypic penetrance. The disease is determined by a genetic locus on chromosome 19q and can be diagnosed using methods of DNA testing. We describe the 25th case of a patient with both conditions together with a review of the literature. To our knowledge, no other patient has had such a large number of histologically proven pilomatrixomata.

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Cited by (76)

Cutaneous findings in myotonic dystrophy
2022, JAAD International
Citation Excerpt :
In particular, studies have been limited on the molecular pathogenesis of DM2 and necessitates further research.13 The most frequent cutaneous features in DM1 are early male frontal alopecia and the development of pilomatricomas that manifest as small firm papules/nodules that are frequently calcified (Table II).1,27 Multiple pilomatricomas are rare and have been associated with a number of syndromes including myotonic dystrophy, familial adenomatous polyposis-related syndrome (including Gardner syndrome), Turner syndrome, and Rubinstein-Taybi syndrome.28
Myotonic dystrophy types 1 and 2 are a group of complex genetic disorders resulting from the expansion of (CTG)_n nucleotide repeats in the DMPK gene. In addition to the hallmark manifestations of myotonia and skeletal muscle atrophy, myotonic dystrophy also affects a myriad of other organs including the heart, lungs, as well as the skin. The most common cutaneous manifestations of myotonic dystrophy are early male frontal alopecia and adult-onset pilomatricomas. Myotonic dystrophy also increases the risk of developing malignant skin diseases such as basal cell carcinoma and melanoma. To aid in the diagnosis and treatment of myotonic dystrophy related skin conditions, it is important for the dermatologist to become cognizant of the common and rare cutaneous manifestations of this genetic disorder. We performed a PubMed search using the key terms “myotonic dystrophy” AND “cutaneous” OR “skin” OR “dermatologic” AND “manifestation” OR “finding.” The resulting publications were manually reviewed for additional relevant publications, and subsequent additional searches were performed as needed, especially regarding the molecular mechanisms of pathogenesis. In this review, we aim to provide an overview of myotonic dystrophy types 1 and 2 and summarize their cutaneous manifestations as well as potential mechanisms of pathogenesis.
Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease
2020, Neurologia
La enfermedad de Steinert o distrofia miotónica tipo 1 (DM1), (OMIM 160900) es la miopatía más prevalente en el adulto. Es una enfermedad multisistémica con alteración de prácticamente todos los órganos y tejidos y una variabilidad fenotípica muy amplia, lo que implica que deba ser atendida por diferentes especialistas que dominen las alteraciones más importantes. En los últimos años se ha avanzado de manera exponencial en el conocimiento de la enfermedad y en su manejo. El objetivo de la guía es establecer recomendaciones para el diagnóstico, el pronóstico, el seguimiento y el tratamiento de las diferentes alteraciones de la DM1.
Esta guía de consenso se ha realizado de manera multidisciplinar. Se ha contado con neurólogos, neumólogos, cardiólogos, endocrinólogos, neuropediatras y genetistas que han realizado una revisión sistemática de la literatura.
Se recomienda realizar un diagnóstico genético con cuantificación precisa de tripletes CTG. Los pacientes con DM1 deben seguir control cardiológico y neumológico de por vida. Antes de cualquier cirugía con anestesia general debe realizarse una evaluación respiratoria. Debe monitorizarse la presencia de síntomas de disfagia periódicamente. Debe ofrecerse consejo genético a los pacientes con DM1 y a sus familiares.
La DM1 es una enfermedad multisistémica que requiere un seguimiento en unidades especializadas multidisciplinares.
Steinert's disease or myotonic dystrophy type 1 (MD1), (OMIM 160900), is the most prevalent myopathy in adults. It is a multisystemic disorder with dysfunction of virtually all organs and tissues and a great phenotypical variability, which implies that it has to be addressed by different specialities with experience in the disease. The knowledge of the disease and its management has changed dramatically in recent years. This guide tries to establish recommendations for the diagnosis, prognosis, follow-up and treatment of the complications of MD1.
Consensus guide developed through a multidisciplinary approach with a systematic literature review. Neurologists, pulmonologists, cardiologists, endocrinologists, neuropaediatricians and geneticists have participated in the guide.
The genetic diagnosis should quantify the number of CTG repetitions. MD1 patients need cardiac and respiratory lifetime follow-up. Before any surgery under general anaesthesia, a respiratory evaluation must be done. Dysphagia must be screened periodically. Genetic counselling must be offered to patients and relatives.
MD1 is a multisystemic disease that requires specialised multidisciplinary follow-up.
Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease
2019, Medicina Clinica
La enfermedad de Steinert o distrofia miotónica tipo 1 (DM1), (OMIM 160900) es la miopatía más prevalente en el adulto. Es una enfermedad multisistémica con alteración de prácticamente todos los órganos y tejidos y una variabilidad fenotípica muy amplia, lo que implica que deba ser atendida por diferentes especialistas que dominen las alteraciones más importantes. En los últimos años se ha avanzado de manera exponencial en el conocimiento de la enfermedad y en su manejo. El objetivo de la guía es establecer recomendaciones para el diagnóstico, el pronóstico, el seguimiento y el tratamiento de las diferentes alteraciones de la DM1.
Esta guía de consenso se ha realizado de manera multidisciplinar. Se ha contado con neurólogos, neumólogos, cardiólogos, endocrinólogos, neuropediatras y genetistas que han realizado una revisión sistemática de la literatura.
Se recomienda realizar un diagnóstico genético con cuantificación precisa de tripletes CTG. Los pacientes con DM1 deben seguir control cardiológico y neumológico de por vida. Antes de cualquier cirugía con anestesia general debe realizarse una evaluación respiratoria. Debe monitorizarse la presencia de síntomas de disfagia periódicamente. Debe ofrecerse consejo genético a los pacientes con DM1 y a sus familiares.
La DM1 es una enfermedad multisistémica que requiere un seguimiento en unidades especializadas multidisciplinares.
Steinert's disease or myotonic dystrophy type 1 (MD1), (OMIM 160900), is the most prevalent myopathy in adults. It is a multisystemic disorder with dysfunction of virtually all organs and tissues and a great phenotypical variability, which implies that it has to be addressed by different specialities with experience in the disease. The knowledge of the disease and its management has changed dramatically in recent years. This guide tries to establish recommendations for the diagnosis, prognosis, follow-up and treatment of the complications of MD1.
Consensus guide developed through a multidisciplinary approach with a systematic literature review. Neurologists, pulmonologists, cardiologists, endocrinologists, neuropaediatricians and geneticists have participated in the guide.
The genetic diagnosis should quantify the number of CTG repetitions. MD1 patients need cardiac and respiratory lifetime follow-up. Before any surgery under general anaesthesia, a respiratory evaluation must be done. Dysphagia must be screened periodically. Genetic counselling must be offered to patients and relatives.
MD1 is a multisystemic disease that requires specialised multidisciplinary follow-up.
Cutaneous features of myotonic dystrophy types 1 and 2: Implication of premature aging and vitamin D homeostasis
2017, Neuromuscular Disorders
Citation Excerpt :
Although these two forms of the disease present a different pattern of distribution of muscular atrophy at both clinical and histopathological levels, they share a common pathogenesis and a multi-systemic involvement of organs and tissues [4–7]. Skin changes, such as baldness and epithelial tumors (pilomatrixomas and non-melanoma skin cancers (NMSC)), are reportedly common in DM1 patients [8,9]. Vitamin D3 (cholecalciferol) is a steroid hormone produced in the skin, through the ultraviolet conversion of 7-dehydrocholesterol.
Skin changes have been described in myotonic dystrophy type 1 (DM1). However, whether and in which way skin is a target of specific disease alterations in DM1 and DM2 has not been yet clarified. This study aims to explore cutaneous features of DM1 and DM2 patients. Skin examination was performed in 60 DM1, 15 DM2, and 103 control, unselected patients by means of dermoscopy. It revealed quantitative and qualitative abnormalities of nevi and typical signs of premature aging in both DM1 and DM2 patients, with a significantly higher frequency of dysplastic nevi, alopecia, xerosis and seborrheic dermatitis. Twenty-eight nevi were excised in DM patients and none showed histological features of melanoma, although 12 of them were diagnosed as dysplastic and the remaining 16 presented histological irregularity in melanin distribution. In DM1 patients, the number of nevi correlated with CTG expansion size, whereas the presence of dysplastic nevi and xerosis inversely correlated with vitamin D levels. DM1 and DM2 patients display a high frequency of skin abnormalities, the most common of which correlate with genotype severity and serum vitamin D levels. Skin examination is highly informative in these patients and reveals features suggestive of premature aging and impaired vitamin D homeostasis.
CELFish ways to modulate mRNA decay
2013, Biochimica et Biophysica Acta - Gene Regulatory Mechanisms
Citation Excerpt :
The compelling links between CELF1 and cancer prompted recent investigations of cancer incidence in DM1 patients as aberrant CELF1 function has been established in this group. These studies revealed an increased overall risk of cancer in DM1 patients, especially thyroid cancer, choroidal melanoma and pilomatricoma [155–158]. In addition, indirect links between the abnormal function of CELF1 and liver [159], breast [59,160] and blood [161] cancer pathogenesis have been described.
The CELF family of RNA-binding proteins regulates many steps of mRNA metabolism. Although their best characterized function is in pre-mRNA splice site choice, CELF family members are also powerful modulators of mRNA decay. In this review we focus on the different modes of regulation that CELF proteins employ to mediate mRNA decay by binding to GU-rich elements. After starting with an overview of the importance of CELF proteins during development and disease pathogenesis, we then review the mRNA networks and cellular pathways these proteins regulate and the mechanisms by which they influence mRNA decay. Finally, we discuss how CELF protein activity is modulated during development and in response to cellular signals. We conclude by highlighting the priorities for new experiments in this field. This article is part of a Special Issue entitled: RNA Decay mechanisms.
Cutaneous manifestations in Steinert's disease
2012, Piel

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CASE REPORTMultiple pilomatrixomata and myotonic dystrophy: a familial association

Abstract

CASE REPORT
Multiple pilomatrixomata and myotonic dystrophy: a familial association